MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: face disease (MONDO:0044987)
Parent Node: mouth disease (MONDO:0006858)
Parent Node: upper respiratory tract disease (MONDO:0004867)
..Starting node ..adenoid hypertrophy ()
Child Nodes:
Sister Nodes:
..acute laryngopharyngitis ()
..adenoid hypertrophy ()
..epiglottitis ()
..laryngeal disease ()
..nasal cavity disease ()
..nasopharyngeal disease ()
..pharyngitis ()
..tonsillitis ()
..tracheal disease ()
..uvulitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	740
Name:	adenoid hypertrophy
Definition:	An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adenoidal hypertrophy; enlarged adenoids
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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